R31G (p.Arg31Gly) variant of LDB3 (LIM domain-binding protein 3)
R31G (p.Arg31Gly) in LDB3 (LIM domain-binding protein 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not specified; Myofibrillar myopathy 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R31G (p.Arg31Gly) variant details
- p.Arg31Gly
- rs367792378
- ClinGen CA377448845
- ClinVar RCV001347909
- ClinVar RCV004629591
- Uncertain significance
- Cardiovascular phenotype; not specified; Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.40
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; Myofibrillar myopathy 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score 0.0075